Evidence map›Paper›PMID 39883753›Full record

ArticleScience (New York, N.Y.)2025

Multiplex generation and single-cell analysis of structural variants in mammalian genomes.

Sudarshan Pinglay, Jean-Benoît Lalanne, Riza M Daza, Sanjay Kottapalli, Faaiz Quaisar, Jonas Koeppel, Riddhiman K Garge, Xiaoyi Li, David S Lee, Jay Shendure

Abstract read
In one paragraph

Article in Science (New York, N.Y.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed.

  1. Article
  2. Synthetic Regulatory Genomics.Annual review of genomics and human genetics · 2026
    Review
  3. Review
  4. Review
  5. Article
  6. Gigabase-scale deletion scanning of the human genome.bioRxiv : the preprint server for biology · 2026
    Article
  7. Review
  8. Review
  9. Review
  10. Epigenome editing based treatment: Progresses and challenges.Molecular therapy : the journal of the American Society of Gene Therapy · 2026
    Review
  11. Review
  12. Review
  13. Article
  14. Review
  15. Article
  16. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Sudarshan PinglayDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0002-8781-1476
Jean-Benoît LalanneDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0001-8753-0669
Riza M DazaDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0003-1635-8675
Sanjay KottapalliDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0009-0000-6758-6243
Faaiz QuaisarDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Jonas KoeppelDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0003-1306-3994
Riddhiman K GargeDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0002-6774-0172
Xiaoyi LiDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
David S LeeDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0001-6539-4272
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.ORCID 0000-0002-1516-1865

Funding

Supplement for Center for Synthetic Regulatory Genomics: Building CACNA1C alleles associated with Neuropsychiatric DisordersRM1HG009491 · NHGRI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Jef D BOEKE · 2018 to 2026
$20.9M
Versatile, exponentially scalable methods for single cell molecular profilingR01HG010632 · NHGRI · UNIVERSITY OF WASHINGTON · PI Jay Ashok Shendure, Bruce Colston Trapnell · 2019 to 2026
$5.9M
Dissecting the logic of mammalian gene regulation using synthetic biology and single-cell sequencingDP5OD036167 · OD · UNIVERSITY OF WASHINGTON · PI Sudarshan Pinglay · 2023 to 2026
$1.9M
Howard Hughes Medical InstituteNHGRI NIH HHS R01 HG010632NHGRI NIH HHS RM1 HG009491NIH HHS DP5 OD036167
6 · The paper itself

Abstract

Studying the functional consequences of structural variants (SVs) in mammalian genomes is challenging because (i) SVs arise much less commonly than single-nucleotide variants or small indels and (ii) methods to generate, map, and characterize SVs in model systems are underdeveloped. To address these challenges, we developed Genome-Shuffle-seq, a method that enables the multiplex generation and mapping of thousands of SVs (deletions, inversions, translocations, and extrachromosomal circles) throughout mammalian genomes. We also demonstrate the co-capture of SV identity with single-cell transcriptomes, facilitating the measurement of SV impact on gene expression. We anticipate that Genome-Shuffle-seq will be broadly useful for the systematic exploration of the functional consequences of SVs on gene expression, the chromatin landscape, and three-dimensional nuclear architecture, while also initiating a path toward a minimal mammalian genome.

Indexed as

GenomeGenomic Structural VariationMammalsSingle-Cell AnalysisAnimalsChromatinGenome, HumanHumansMicePolymorphism, Single NucleotideTranscriptomeChromatin

Identifiers

PMID39883753
PMCPMC11931979

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.